Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0038002 (
splenomegaly
)
9,873
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report on two additional patients with the
cardiofaciocutaneous (CFC) syndrome
, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and
splenomegaly
. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.
...
PMID:The CFC syndrome--report of the first two cases outside the United States. 342 95